Q-1. All of the following are features of systemic juvenile rheumatoid arthritis
a) Uveitis
b) Rash
c) Fever
d) Hepato-spleenomegaly
Answer: Uveitis
Explanation:
The hallmark signs of systemic-onset JRA are a very high fevers and a pale pink or salmon-colored rash, usually on the child’s chest and thighs.
Children also have joint pain and/or swelling, which can become more painful when the fever peaks.
Systemic-onset JRA also can cause inflammation of the lining of the lung (pleuritis) or lining of the heart (pericarditis), swollen lymph nodes, and an enlarged spleen and liver.
Q-2. Coarse facies, hepato-spleenomegaly and tall QRS on ECG are characteristic feature of
a) Glycogen storage disease type II
b) Hurler’s disease
c) Hunter’s disease
d) Hemochromatosis
Answer: Glycogen storage disease type II
Explanation:
Pompe’s disease is glycogen storage disease type II. Pompe’s disease is due to deficiency of acid alpha Glucosidase.
Pompe’s disease is inherited as autosomal recessive.
Pompe’s disease produces infiltrative cardiomyopathy characterized by thickening of ventricular walls and diastolic dysfunction. Less commonly, systolic dysfunction can also occur.
The characteristic ECG finding in Pompe’s disease is a short PR interval. Increased QT dispersion is another characteristic finding in Pompe’s disease.
Q-3. Posterior iliac horn are seen in
a) Fisher’s syndrome
b) Crouzon syndrome
c) Nail patella syndrome
d) Pierre robin syndrome
Answer: Nail patella syndrome
Explanation:
Nail-patella syndrome (also known as Fong disease) is a rare autosomal dominant condition which results from a symmetrical meso & ecto dermal abnormality.
The underlying genetic defect is caused by loss of function mutations in the transcription factor LMX1B on chromosome 9.
Diagnostic radiographic findings include
Absent / hypo-plastic patellae
Hypoplasia of the radial head or capitulum
Bilateral posterior iliac horns (“Fong’s prongs”)
Protuberant anterior iliac spines
The bilateral posterior iliac horns are due to exostoses arising from the posterior aspect of the iliac bones are present in as many as 80% of patients; this finding is considered pathognomonic for the syndrome.
Q-4. Failure to pass meconium within 48 hours of birth in a newborn with no obvious external abnormality should lead to the suspicion of
a) Anal atresia
b) Congenital pouch colon
c) Congenital Aganglionosis
d) Meconium ileus
Answer: Congenital Aganglionosis
Explanation:
Congenital Mega-Colon (Congenital aganglionic mega-colon)
During normal fetal development, cells from the neural crest migrate into the large intestine (colon) to form the networks of nerves called Auerbach’s plexus and Meissner’s plexus. In Hirschsprug’s disease, the migration is not complete and part of the colon lacks these nerve bodies that regulate the activity of the colon.
Hirschprung disease should be considered in any newborn with delayed passage of meconium or in any child with a history of chronic constipation since birth. Other symptoms include bowel obstruction with bilious vomiting, abdominal distention, poor feeding, and failure to thrive.
Diagnostic techniques involve ano-rectal manometry, barium enema, and rectal biopsy.
The suction rectal biopsy is considered the current international gold standard in the diagnosis of Hirschsprug’s disease. A histologic examination of the tissue would show a lack of ganglionic nerve cells.
Q-5. All of the following are seen in rickets, except:
a) Bow legs
b) Gunstock deformity
c) Pot belly
d) Craniotabes
Answer: Gunstock deformity
Explanation:
Cubitus varus is a common deformity in which the extended forearm is deviated towards midline of the body.
Cubitus varus is often referred to as ‘Gunstock deformity’, due to the crooked nature of the healing. A common cause is the supra-condylar fracture of humerus.
Plain radiograph findings Rickets
Widening and cupping of the metaphyseal regions
Fraying of the metaphysis
Craniotabes
Bowing of long bones
Development of knock-knees, or genu valgum
Development of scoliosis
Impression of the sacrum and femora into the pelvis, leading to a tri-radiate configuration of the pelvis
In healing rickets, the zones of provisional calcification become denser than the diaphysis. In addition, cupping of the metaphysis may become more apparent.
Q-6. Most common underlying anomaly in a child with recurrent urinary tract infections is:
a) Posterior urethral valves
b) Vesico-ureteric reflux
c) Neurogenic bladder
d) Renal calculi
Answer: Vesico-ureteric reflux
Explanation:
Reflux from the bladder into the upper urinary tract predisposes to pyelo-nephritis by allowing entry of bacteria to the usually sterile upper tract.
As such the diagnosis is first suspected after a urinary tract infection in a young child.
Vesico-ureteric reflux may be an isolated abnormality or associated with other congenital anomalies including:
Posterior urethral valves and Duplex collecting system
Voiding cysto-urethrogram (also known as micturating cysto-urethrogram) should be performed after the first well-documented urinary tract infection up to the age of 6 years.
Q-7. Most appropriate management for maintaining patency of ductus arteriosus in a neonate is:
a) Prostaglandin E1
b) Oxygen
c) Nitric oxide
d) Indomethacin
Answer: Prostaglandin E1
Explanation:
Prostaglandins are utilized to maintain the patency of the ductus arteriosus until surgical ligation is performed.
When surgical ligation is not indicated, prostaglandin inhibitors (e.g., non-steroid anti-inflammatory drugs are used to close the ductus arteriosus.
Intravenous (IV) indomethacin or IV ibuprofen is used to treat patent ductus arteriosus (PDA) in the neonate and in premature infants.
Q-8. When does switch over from fetal to adult hemoglobin synthesis begin?
a) 14 weeks gestation
b) 30 weeks gestation
c) 36 weeks gestation
d) 7-10 days postnatal
Answer: 30 weeks gestation (?)
Explanation:
Adult hemoglobin starts to be produced in utero, at around the 13th week of gestation.
Fetal hemoglobin is the main oxygen transport protein in the human fetus during the last seven months of development in the uterus
Initially in small amounts, its concentration gradually increases until 20-30% of the babies’ hemoglobin is the Hb A.
The switch is not completed until around 6 months of age, when Hb F levels dramatically decrease and Hb A predominates.
Q-9. Which of the following is the most common inherited malignancy?
a) Infant leukemia
b) Retinoblastoma
c) Wilm’s tumor
d) Neuroblastoma
Answer: Retinoblastoma
Explanation:
Retinoblastoma (Rb) is the most common malignant tumor of the eye in children.
There are two forms of the disease, a heritable form and non-heritable form.
In children with the heritable genetic form of retinoblastoma there is a mutation on chromosome 13, called the RB1 gene.
Survivors of the heritable form of retinoblastoma subsequently develop second primary Osteo-sarcomas at substantially greater frequency than either the general population or survivors of non-heritable retinoblastoma.
The same gene (called the RB gene) that is abnormal in many children with a rare type of eye cancer called retinoblastoma may also be associated with Osteo-sarcoma. RB is a tumor suppressor gene that normally controls the growth of cells.
Q-10. A 30-year old lady delivered a healthy baby at 37 week of gestation. She was a known case of chronic hepatitis B infection. She was positive for HBsAg but negative for HBeAg. Which of the following is the most appropriate treatment for the baby?
a) Both active and passive immunizations soon after birth
b) Passive immunization soon after birth and active immunization at 1 year of age
c) Only passive immunization soon after birth
d) Only active immunization soon after birth
Answer: Both active and passive immunizations soon after birth
Explanation:
Infants born to HBsAg-positive mothers should receive HBIG (0.5 mL) intramuscularly (IM) once they are physiologically stable, preferably within 12 hours after birth.
HB vaccine should be administered IM in three doses of 0.5 mL each. The first dose should be given concurrently with HBIG but at a different site.
If vaccine is not immediately available, the first dose can be given within 7 days after birth. The second and third doses should be given 1 month and 6 months after the first.